Affected Systems |
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cardiovascular system
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√
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√
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√
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√
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√
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√
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√
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√
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√
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√
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√
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√
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decreased angiogenesis
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√
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disorganized yolk sac vascular plexus
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√
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abnormal heart morphology
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√
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√
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√
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√
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√
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√
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√
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√
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√
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abnormal heart development
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√
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double outlet right ventricle
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√
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√
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overriding aortic valve
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√
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ventricular septal defect
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√
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√
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√
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√
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√
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√
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√
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√
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√
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craniofacial
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√
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√
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N
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√
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√
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√
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√
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√
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√
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√
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craniofacial phenotype
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N
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short mandible
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√
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abnormal mouth morphology
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√
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abnormal palate development
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√
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palatal shelves fail to meet at midline
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√
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cleft palate
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√
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√
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√
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√
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√
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√
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√
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√
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√
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failure of palatal shelf elevation
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√
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digestive/alimentary system
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√
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√
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√
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√
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√
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√
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√
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√
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√
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abnormal palate development
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√
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palatal shelves fail to meet at midline
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√
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cleft palate
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√
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√
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√
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√
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√
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√
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√
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√
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√
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failure of palatal shelf elevation
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√
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embryo
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√
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√
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N
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√
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√
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embryo phenotype
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N
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disorganized yolk sac vascular plexus
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√
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incomplete embryo turning
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√
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embryonic growth retardation
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√
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√
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decreased embryo size
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√
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abnormal embryonic tissue morphology
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√
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open neural tube
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√
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√
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√
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abnormal parietal yolk sac morphology
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√
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growth/size/body
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√
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√
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√
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√
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√
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√
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√
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√
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√
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√
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√
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abnormal mouth morphology
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√
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abnormal palate development
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√
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palatal shelves fail to meet at midline
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√
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cleft palate
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√
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√
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√
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√
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√
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√
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√
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√
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√
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failure of palatal shelf elevation
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√
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embryonic growth retardation
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√
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√
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decreased embryo size
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√
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decreased body size
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√
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hearing/vestibular/ear
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√
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√
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abnormal cochlear hair cell morphology
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√
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√
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abnormal cochlear hair cell number
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√
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√
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abnormal orientation of outer hair cell stereociliary bundles
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√
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√
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homeostasis/metabolism
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√
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cyanosis
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√
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mortality/aging
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√
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√
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√
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√
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neonatal lethality, incomplete penetrance
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√
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postnatal lethality, incomplete penetrance
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√
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embryonic lethality during organogenesis, complete penetrance
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√
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√
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nervous system
|
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√
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√
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√
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√
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√
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nervous system phenotype
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N
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open neural tube
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√
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√
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√
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abnormal cochlear hair cell morphology
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√
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√
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abnormal cochlear hair cell number
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√
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√
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abnormal orientation of outer hair cell stereociliary bundles
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√
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√
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abnormal nervous system electrophysiology
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√
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skeleton
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√
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short mandible
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√
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taste/olfaction
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√
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abnormal olfactory system physiology
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√
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